Disease:Defects in STXBP1 are the cause of early infantile epileptic encephalopathy type 4 (EIEE4) [MIM:612164]. Affected individuals have neonatal or infantile onset of seizures , suppression-burst pattern on EEG , profound mental retardation , and MRI evidence of hypomyelination. ,Function:May participate in the regulation of synaptic vesicle docking and fusion , possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin , a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1 , 2 , and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions. ,similarity:Belongs to the STXBP/unc-18/SEC1 family. ,subunit:Binds SYTL4 and STX1A. ,tissue specificity:Brain and spinal cord. Highly enriched in axons. ,
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